Publications [#277138] of Kathleen A. Welsh-Bohmer

Journal Articles

1. Ikeuchi, T; Sanpei, K; Takano, H; Sasaki, H; Tashiro, K; Cancel, G; Brice, A; Bird, TD; Schellenberg, GD; Pericak-Vance, MA; Welsh-Bohmer, KA; Clark, LN; Wilhelmsen, K; Tsuji, S (1998). A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.. Genomics, 49(2), 321-326. [9598323], [doi]
   (last updated on 2025/06/16)

   Abstract:
   Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10-26 repeat units, and allele L, 50-92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21-q23.